The Laurence-Moon-Bardet-Biedl syndrome. Case report and endocrinologic evaluation

The Laurence-Moon-Bardet-Biedl syndrome is a rare condition, with an incidence of 1 in 160,000. The diagnosis is usually made in men presenting with hypogonadism. Only a few women have been studied. We performed an endocrinologic evaluation of a woman with this syndrome. Her baseline values for follicle-stimulating hormone (FSH), luteinizing hormone (LH) and thyroid function tests were normal. Thyrotropin-releasing-hormone stimulation indicated a normal pituitary response of thyroid-stimulating hormone and prolactin. Luteinizing-hormone-releasing-hormone-stimulation tests showed a pubertal response of LH with a somewhat blunted FSH response. The etiologic factor in our patient appeared hypothalamic.